Varaico: Literature-Extracted Genetic Variants

Gene:SYT1
Variant:p.R400Q
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SYT1

NM_005639.3:p.R400Q

Associated Papers

Age-Related Characteristics of SYT1-Associated Neurodevelopmental Disorder.

Norwitz SG et al.

Annals of Clinical and Translational Neurology, 2025

41332143 (PubMed )
Supplement: supplement_1.docx

A Post-Docking Role of Synaptotagmin 1-C2B Domain Bottom Residues R398/399 in Mouse Chromaffin Cells.

Kedar GH et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."